|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Age-related skeletal muscle loss and patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphisms are both associated with increased liver steatosis and fibrosis in the absence of obesity.
|
31250467 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein 3, PNPLA3) has been associated with hepatic steatosis and liver fibrosis.
|
23418085 |
2013 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although African Americans are less susceptible to fatty liver than European Americans, PNPLA3 appears to be a risk locus for hepatic steatosis in diabetic African Americans.
|
21665509 |
2011 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among 270 HBV-infected patients, concurrent fatty liver was found in 107 patients (39.6%) and was associated with metabolic risks, cirrhosis (P = 0.016) and PNPLA3 rs738409 CG/GG genotype (P = 0.002).
|
27547913 |
2017 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An isoleucine>methionine mutation at position 148 in the PNPLA3 gene (rs738409" genes_norm="80339">p.I148M, rs738409) has recently been identified as a susceptibility factor for liver damage in steatohepatitis.
|
22087248 |
2011 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Another genetic variant in the patatin‑like phospholipase domain containing 3 genes is associated with hepatic steatosis and fibrosis in patients with HCV.
|
28339063 |
2017 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As PNPLA3 I148M is a strong and inherited determinant of liver fat without affecting insulin resistance and lipid levels, these data suggest that steatosis has a causal role in determining serum Fetuin-A levels.
|
24828988 |
2014 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
ASO-mediated silencing of Pnpla3 reduced liver steatosis (p = 0.038) in homozygous Pnpla3 148M/M knock-in mutant mice but not in wild-type littermates fed a steatogenic high-sucrose diet.
|
30772256 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Associations of the single nucleotide polymorphisms (SNP) PNPLA3 rs738409 and TM6SF2 rs58542926 with hepatic steatosis have recently been established.
|
26847197 |
2016 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
At multivariable regression analysis, SGA at birth increased fourfold the likelihood of severe steatosis (odds ratio (OR) 4.0, 95% confidence interval (CI) 1.43-10.9, P=0.008) and threefold the likelihood of NAFLD Activity Score (NAS)≥5 (OR 2.98, 95% CI 1.06-8.33, P=0.037) independently of homeostasis model assessment of insulin resistance and PNPLA3 genotype.
|
28555633 |
2017 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Based on a large monocentric cohort of Caucasian heavy drinkers we could recently provide evidence that PNPLA3 GG primarily correlated with signs of liver damage (steatohepatitis, ballooning) but less with steatosis.
|
30362098 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because PNPLA3 rs738409, GCKR rs780094 and TM6SF2 rs58542926 variants are known to confer susceptibility to NAFLD, we assessed the influence of MBOAT7 rs641738 on hepatic steatosis, and serum levels of CK-18 fragment (a biomarker of hepatocellular injury and apoptosis for NAFLD) after adjusting the effects of PNPLA3, GCKR and TM6SF2 polymorphisms.
|
29314568 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Before 2008, candidate gene studies based on prior knowledge of pathophysiology of fatty liver yielded conflicting results.In 2008, Romeo et al. published the first genome wide association study and reported the strongest genetic signal for the presence of fatty liver (PNPLA3, patatin-like phospholipase domain containing 3; rs738409).
|
22093607 |
2012 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By multiple logistic regression, PNPLA3 genotype (OR 1.54, 95% CI 1.03-2.30, P = 0.03), together with age (OR 1.03, 95% CI 1.00-1.05, P = 0.02), BMI ≥ 30 (OR 2.06, 95% CI 1.04-4.10, P = 0.03) and homoeostasis model assessment (HOMA, OR 1.18, 95% CI 1.04-1.32, P = 0.006) were independently linked to steatohepatitis.
|
25801076 |
2015 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Carriage of the PNPLA3 rs738409 C >G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC.
|
24607626 |
2014 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Compared to recipients with only the PNPLA3 GG allele or obesity (defined as body mass index > 25 kg/m(2)), steatosis was highly prevalent (71.4%) in PNPLA3 GG carriers with obesity.
|
26379412 |
2015 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Conclusion: Taken together, these findings are consistent with a model in which PNPLA3(148M) promotes steatosis by CGI-58-dependent inhibition of ATGL on LDs.
|
30802989 |
2019 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Establishment and characterization of an iPSC line from a 35 years old high grade patient with nonalcoholic fatty liver disease (30-40% steatosis) with homozygous wildtype PNPLA3 genotype.
|
30071394 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype.
|
30081348 |
2018 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Frequencies of allele PNPLA3 rs738409(G) in individuals with steatosis and normal alanine aminotransferase (ALT) and AST levels were lower than in alcoholics without steatosis and normal ALT/AST (P(combined) = 0.03).
|
21254164 |
2011 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic resonance imaging and circulating levels of cytokeratin-18 (CK-18) fragments, a robust NASH biomarker, and to explore the impact on this association of ethnicity, insulin resistance, and single nucleotide polymorphisms (SNPs) associated with steatosis (rs738409 in the PNPLA3, rs1260326 in the GCKR) or NASH severity (rs2645424 in the FDFT1).
|
23275357 |
2013 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, PNPLA3 rs2294918 rs2294918" genes_norm="80339">E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on the predisposition to steatosis and liver damage.
|
26605757 |
2016 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, IL28B rs12979860 and PNPLA3 rs738409 modify steatosis.
|
26259026 |
2016 |
|
Steatohepatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, its association with non-invasive ultrasound- and magnetic resonance (MR)-based markers of liver fibrosis and steatosis, the enhanced liver fibrosis (ELF) score, liver biopsy, as well as rs738409 in PNPLA3, has not been elucidated in NAFLD, so far.
|
28914407 |
2017 |
|
Steatohepatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
IL28B and PNPLA3 are associated with hepatic steatosis prevalence and severity in Caucasians with G1 HCV, suggesting differing potential genetic risk pathways to steatosis.
|
22543885 |
2012 |